The following history is taken from the
U.S. Department of Energy 1991-91 Human Genome Program
Report (June 1992). This is an archived item.
A brief history of the U.S. Department of Energy (DOE)
Human Genome Program will be useful in a discussion of
the objectives of the DOE program as well as those of the
collaborative U.S. Human Genome Project. The Office of
Health and Environmental Research (OHER) of DOE and its
predecessor agencies--the Atomic Energy Commission and
the Energy Research and Development Administration--have
long sponsored research into genetics, both in microbial
systems and in mammals, including basic studies on genome
structure, replication, damage, and repair and the
consequences of genetic mutations.
In 1984, OHER and the International Commission on
Protection Against Environmental Mutagens and Carcinogens
cosponsored a conference in Alta, Utah, which highlighted
the growing roles of recombinant DNA technologies.
Substantial portions of the meeting's proceedings were
incorporated into the Congressional Office of Technology
Assessment report, Technologies for Detecting
Heritable Mutations in Humans, in which the value of
a reference sequence of the human genome was recognized.
Acquisition of such a reference sequence was, however,
far beyond the capabilities of biomedical research
resources and infrastructure existing at that time.
Although the small genomes of several microbes had been
mapped or partially sequenced, the detailed mapping and
eventual sequencing of 24 distinct human chromosomes (22
autosomes and the sex chromosomes X and Y) that together
comprise an estimated 3 billion subunits was a task some
thousandsfold larger.
DOE OHER was already engaged in several
multidisciplinary projects contributing to the nation's
biomedical capabilities, including the GenBank® DNA
sequence repository, which was initiated and sustained by
DOE computer and data-management expertise. Several major
user facilities supporting microstructure research were
developed and are maintained by DOE. Unique
chromosome-processing resources and capabilities were in
place at Los Alamos National Laboratory and Lawrence
Livermore National Laboratory. Among these were the
fluorescence-activated cell sorter (FACS) systems to
purify human chromosomes within the National Laboratory
Gene Library Project for the production of libraries of
DNA clones. The availability of these monochromosomal
libraries opened an important path--a practical means of
subdividing the huge total genome into 24 much more
manageable components.
With these capabilities, OHER began in 1986 to
consider the feasibility of a dedicated human genome
program. Leading scientists were invited to the March
1986 international conference at Santa Fe, New Mexico, to
assess the desirability and feasibility of implementing
such a project. With virtual unanimity, participants
agreed that ordering and eventually sequencing DNA clones
representing the human genome were desirable and feasible
goals. With the receipt of this enthusiastic response,
OHER initiated several pilot projects. Program guidance
was further sought from the DOE Health Effects Research
Advisory Committee.
The HERAC Recommendation. The April 1987 HERAC
report recommended that DOE and the nation commit to a
large, multidisciplinary, scientific, and technological
undertaking to map and sequence the human genome. DOE was
particularly well suited to focus on resource and
technology development, the report noted; HERAC further
recommended a leadership role for DOE because of its
demonstrated expertise in managing complex and long-term
multidisciplinary projects involving both the development
of new technologies and the coordination of efforts in
industries, universities, and its own laboratories.
Evolution of the nation's Human Genome Project further
benefited from a 1988 study by the National Research
Council (NRC) entitled Mapping and Sequencing the
Human Genome, which recommended that the United
States support this research effort and presented an
outline for a multiphase plan.
DOE-NIH Coordination
The National Institutes of
Health (NIH) was a necessary participant in the
large-scale effort to map and sequence the human genome
because of its long history of support for biomedical
research and its vast community of scientists. This was
confirmed by the NRC report, which recommended a major
role for NIH. In 1987, under the leadership of Director
James Wyngaarden, NIH established the Office of Genome
Research in the Director's Office. In 1989 this office
became the National Center for Human Genome Research
(NCHGR), directed by James D. Watson. After Watson's
resignation in April 1992, Michael Gottesman was
appointed NCHGR Acting Director. In 1997 NCHGR became the
National Human Genome Research Institute (NHGRI).
In addition to extramural support for research
projects in physical mapping and the development of index
linkage markers and technology, NIH also provides support
for genetic mapping based on family studies and,
following NRC recommendations, for studies on several
relevant model organisms. DOE-supported genome research
is focused almost exclusively on the human genome through
support of large-scale physical mapping, resource and
instrumentation technology development, and improvements
in computational and database capabilities and research
infrastructure. A significant portion of the DOE Human
Genome Program is allocated to the DOE national
laboratories.
In several important areas, DOE and NIH cooperate to
support critical resources such as the Genome Data Base
(GDB) at Johns Hopkins University. Cofunded since 1991 as
the central international repository of human chromosome
mapping data, GDB is expected to receive supporting funds
from other nations. DOE and NIH also cooperate to support
joint workshops; a number of ethical, legal, and social
issues projects; and the Human Genome News newsletter.
Joint task groups under the DOE-NIH Joint Subcommittee
on the Human Genome meet periodically to define program
needs and develop recommendations for their parent DOE
and NIH committees. OHER and NCHGR cosponsor workshops
and meetings of the task groups on mapping; sequencing;
informatics; the use of the mouse as a mammalian model;
and--in a departure from most scientific
programs--ethical, legal, and social issues related to
data produced in the project.
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